Canonical Allele Identifier: CA646978

Gene: ALDH4A1

Linked Data

• ClinVar Variation Id: 294372
• ClinVar RCV Id: RCV000513466 ; RCV001088652 ; RCV003967830
• dbSNP Id: rs149414160
• ExAC: 1:19202886 A / G
• gnomAD v2: 1-19202886-A-G
• gnomAD v3: 1-18876392-A-G
• gnomAD v4: 1-18876392-A-G
• MyVariant Identifiers: chr1:g.19202886A>G (hg19) ; chr1:g.18876392A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18876392A>G , CM000663.2:g.18876392A>G	GRCh38
NC_000001.10:g.19202886A>G , CM000663.1:g.19202886A>G	GRCh37
NC_000001.9:g.19075473A>G	NCBI36
NG_012283.1:g.31408T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375341.8:c.1261T>C MANE Select	ENSP00000364490.3:p.Cys421Arg
ENST00000290597.9:c.1261T>C	ENSP00000290597.5:p.Cys421Arg
ENST00000375341.7:c.1261T>C	ENSP00000364490.3:p.Cys421Arg
ENST00000494072.3:c.2313T>C
ENST00000538309.5:c.1081T>C	ENSP00000442988.1:p.Cys361Arg
ENST00000538839.5:c.1185+816T>C	ENSP00000446071.1:n.1185+816T>C
NM_001161504.1:c.1081T>C	NP_001154976.1:p.Cys361Arg
NM_003748.3:c.1261T>C	NP_003739.2:p.Cys421Arg
NM_170726.2:c.1261T>C	NP_733844.1:p.Cys421Arg
XM_011542352.1:c.1185+816T>C	XP_011540654.1:n.1185+816T>C
XM_011542353.1:c.*7+816T>C	XP_011540655.1:n.*7+816T>C
XR_946786.1:n.1130T>C
NM_001319218.1:c.1185+816T>C	NP_001306147.1:n.1185+816T>C
XR_001737510.1:n.1054+816T>C
NM_003748.4:c.1261T>C MANE Select	NP_003739.2:p.Cys421Arg
NM_170726.3:c.1261T>C	NP_733844.1:p.Cys421Arg
NM_001161504.2:c.1081T>C	NP_001154976.1:p.Cys361Arg
NM_001319218.2:c.1185+816T>C	NP_001306147.1:n.1185+816T>C